NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 10, 2022
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000619005.3
Allele description [Variation Report for NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met)]
NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met)
- Genes:
- LOC126807137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:114276560-114277759 [Gene]
ANK2:ankyrin 2 [Gene - OMIM - HGNC] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 4q26
- Genomic location:
- Preferred name:
- NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met)
- HGVS:
- NC_000004.12:g.113355787A>T
- NG_009006.2:g.542705A>T
- NM_001127493.3:c.4400-5036A>T
- NM_001148.6:c.7169A>TMANE SELECT
- NM_001354225.2:c.4439-5036A>T
- NM_001354228.2:c.4328-5036A>T
- NM_001354230.2:c.4406-5036A>T
- NM_001354231.2:c.4469-5036A>T
- NM_001354232.2:c.4463-5036A>T
- NM_001354235.2:c.4424-5036A>T
- NM_001354236.2:c.4325-5036A>T
- NM_001354237.2:c.4505-5036A>T
- NM_001354239.2:c.4397-5036A>T
- NM_001354240.2:c.4472-5036A>T
- NM_001354241.2:c.4472-5036A>T
- NM_001354242.2:c.4469-5036A>T
- NM_001354243.2:c.4364-5036A>T
- NM_001354244.2:c.4361-5036A>T
- NM_001354245.2:c.4265-5036A>T
- NM_001354246.2:c.4424-5036A>T
- NM_001354249.2:c.4241-5036A>T
- NM_001354252.2:c.4397-5036A>T
- NM_001354253.2:c.4202-5036A>T
- NM_001354254.2:c.4376-5036A>T
- NM_001354255.2:c.4364-5036A>T
- NM_001354256.2:c.4361-5036A>T
- NM_001354257.2:c.4166-5036A>T
- NM_001354258.2:c.4328-5036A>T
- NM_001354260.2:c.4142-5036A>T
- NM_001354261.2:c.4286-5036A>T
- NM_001354262.2:c.4265-5036A>T
- NM_001354264.2:c.4262-5036A>T
- NM_001354265.2:c.4424-5036A>T
- NM_001354266.2:c.4241-5036A>T
- NM_001354267.2:c.4241-5036A>T
- NM_001354268.2:c.4229-5036A>T
- NM_001354269.3:c.4214-5036A>T
- NM_001354270.2:c.4202-5036A>T
- NM_001354271.2:c.4142-5036A>T
- NM_001354272.2:c.4298-5036A>T
- NM_001354273.2:c.4127-5036A>T
- NM_001354274.2:c.4193-5036A>T
- NM_001354275.2:c.4265-5036A>T
- NM_001354276.2:c.4241-5036A>T
- NM_001354277.2:c.4043-5036A>T
- NM_001354278.2:c.1955-5036A>T
- NM_001354279.2:c.1991-5036A>T
- NM_001354280.2:c.1976-5036A>T
- NM_001354281.2:c.1955-5036A>T
- NM_001354282.2:c.1991-5036A>T
- NM_001386142.1:c.6935A>T
- NM_001386143.1:c.4364-5036A>T
- NM_001386144.1:c.4472-5036A>T
- NM_001386146.1:c.4208-5036A>T
- NM_001386147.1:c.4253-5036A>T
- NM_001386148.2:c.4412-5036A>T
- NM_001386149.1:c.4208-5036A>T
- NM_001386150.1:c.4208-5036A>T
- NM_001386151.1:c.4142-5036A>T
- NM_001386152.1:c.4484-5036A>T
- NM_001386153.1:c.4208-5036A>T
- NM_001386154.1:c.4193-5036A>T
- NM_001386156.1:c.4166-5036A>T
- NM_001386157.1:c.4043-5036A>T
- NM_001386158.1:c.3944-5036A>T
- NM_001386160.1:c.4271-5036A>T
- NM_001386161.1:c.4361-5036A>T
- NM_001386162.1:c.4241-5036A>T
- NM_001386166.1:c.3569A>T
- NM_001386167.1:c.827-5036A>T
- NM_001386174.1:c.7310A>T
- NM_001386175.1:c.7286A>T
- NM_001386186.2:c.4412-5036A>T
- NM_001386187.2:c.4292-5036A>T
- NM_020977.5:c.4427-5036A>T
- NP_001139.3:p.Lys2390Met
- NP_001373071.1:p.Lys2312Met
- NP_001373095.1:p.Lys1190Met
- NP_001373103.1:p.Lys2437Met
- NP_001373104.1:p.Lys2429Met
- LRG_327t1:c.7169A>T
- LRG_327:g.542705A>T
- NC_000004.11:g.114276943A>T
- NM_001148.4:c.7169A>T
- NM_001148.5:c.7169A>T
This HGVS expression did not pass validation- Protein change:
- K1190M
- Links:
- dbSNP: rs769894397
- NCBI 1000 Genomes Browser:
- rs769894397
- Molecular consequence:
- NM_001127493.3:c.4400-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354225.2:c.4439-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354228.2:c.4328-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354230.2:c.4406-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354231.2:c.4469-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354232.2:c.4463-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354235.2:c.4424-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354236.2:c.4325-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354237.2:c.4505-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354239.2:c.4397-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354240.2:c.4472-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354241.2:c.4472-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354242.2:c.4469-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354243.2:c.4364-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354244.2:c.4361-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354245.2:c.4265-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354246.2:c.4424-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354249.2:c.4241-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354252.2:c.4397-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354253.2:c.4202-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354254.2:c.4376-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354255.2:c.4364-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354256.2:c.4361-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354257.2:c.4166-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354258.2:c.4328-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354260.2:c.4142-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354261.2:c.4286-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354262.2:c.4265-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354264.2:c.4262-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354265.2:c.4424-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354266.2:c.4241-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354267.2:c.4241-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354268.2:c.4229-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354269.3:c.4214-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354270.2:c.4202-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354271.2:c.4142-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354272.2:c.4298-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354273.2:c.4127-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354274.2:c.4193-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354275.2:c.4265-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354276.2:c.4241-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354277.2:c.4043-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354278.2:c.1955-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354279.2:c.1991-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354280.2:c.1976-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354281.2:c.1955-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001354282.2:c.1991-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386143.1:c.4364-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386144.1:c.4472-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386146.1:c.4208-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386147.1:c.4253-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386148.2:c.4412-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386149.1:c.4208-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386150.1:c.4208-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386151.1:c.4142-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386152.1:c.4484-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386153.1:c.4208-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386154.1:c.4193-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386156.1:c.4166-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386157.1:c.4043-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386158.1:c.3944-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386160.1:c.4271-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386161.1:c.4361-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386162.1:c.4241-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386167.1:c.827-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386186.2:c.4412-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001386187.2:c.4292-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_020977.5:c.4427-5036A>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001148.6:c.7169A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386142.1:c.6935A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386166.1:c.3569A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386174.1:c.7310A>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001386175.1:c.7286A>T - missense variant - [Sequence Ontology: SO:0001583]
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000736033 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Likely benign (Jun 10, 2022) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV000736033.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: May 1, 2024